Vadim Dolgin

Beersheba, D 84105, Israel

Last Updated: 09/26/2026

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Found 29 publications

Xq26.2 Contiguous Gene Deletion Involving FRMD7 and IGSF1: Highly Penetrant Infantile Nystagmus with Variable Endocrine Involvement.

Xq26.2 Contiguous Gene Deletion Involving FRMD7 and IGSF1: Highly Penetrant Infantile Nystagmus with Variable Endocrine Involvement.

Journal: Genes

Published: July 15, 2026

A Novel Variant in an Israeli Bedouin Family: The First Reported Cases of Carbonic Anhydrase VA (CA5A) Deficiency in Israel.

A Novel Variant in an Israeli Bedouin Family: The First Reported Cases of Carbonic Anhydrase VA (CA5A) Deficiency in Israel.

Journal: Genes

Published: February 13, 2026

A lethal form of ASCC3 disease: Severe global developmental delay, axial hypotonia, hypoplasia of corpus callosum, hypothyroidism, and micropenis.

A lethal form of ASCC3 disease: Severe global developmental delay, axial hypotonia, hypoplasia of corpus callosum, hypothyroidism, and micropenis.

Journal: HGG advances

Published: January 23, 2026

Monogenic Kidney Diseases in Children - Five Years of Experience from a Dedicated Nephrogenetic Clinic in Southern Israel

Monogenic Kidney Diseases in Children - Five Years of Experience from a Dedicated Nephrogenetic Clinic in Southern Israel

Journal: Harefuah

Published: December 25, 2025

FACS-based dual fluorescence reporter assay demonstrates efficacy of antisense oligonucleotide therapy of novel PRPF3 intronic splice variant.

FACS-based dual fluorescence reporter assay demonstrates efficacy of antisense oligonucleotide therapy of novel PRPF3 intronic splice variant.

Journal: Molecular therapy. Nucleic acids

Published: January 12, 2025

Intronic and Coding Genetic Variants in Autosomal Recessive Polycystic Kidney Disease Among Israeli Bedouins of Arabian Peninsula Ancestry.

Intronic and Coding Genetic Variants in Autosomal Recessive Polycystic Kidney Disease Among Israeli Bedouins of Arabian Peninsula Ancestry.

Journal: American journal of kidney diseases : the official journal of the National Kidney Foundation

Published: December 31, 2024

Early-Onset Movement Disorder Syndrome Caused by Biallelic Variants in PDE1B Encoding Phosphodiesterase 1B.

Early-Onset Movement Disorder Syndrome Caused by Biallelic Variants in PDE1B Encoding Phosphodiesterase 1B.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: December 29, 2024

A ciliopathy combining Joubert syndrome and Oro-Facial-Digital syndrome caused by bi-allelic 5'-UTR loss-of-function CEP83 variant.

A ciliopathy combining Joubert syndrome and Oro-Facial-Digital syndrome caused by bi-allelic 5'-UTR loss-of-function CEP83 variant.

Journal: NPJ genomic medicine

Published: November 24, 2024

Severe neonatal hypotonia due to SLC30A5 variant affecting function of ZnT5 zinc transporter.

Severe neonatal hypotonia due to SLC30A5 variant affecting function of ZnT5 zinc transporter.

Journal: JIMD reports

Published: November 09, 2024

Novel BRAT1 Deep Intronic Variant Affects Splicing Regulatory Elements Causing Cerebellar Hypoplasia Syndrome: Genotypic and Phenotypic Expansion.

Novel BRAT1 Deep Intronic Variant Affects Splicing Regulatory Elements Causing Cerebellar Hypoplasia Syndrome: Genotypic and Phenotypic Expansion.

Journal: Clinical genetics

Published: September 04, 2024

Unraveling MECP2 structural variants in previously elusive Rett syndrome cases through IGV interpretation.

Unraveling MECP2 structural variants in previously elusive Rett syndrome cases through IGV interpretation.

Journal: NPJ genomic medicine

Published: August 18, 2024

Mitral Valve Prolapse Caused by TLL1 Gain-of-Function Mutation.

Mitral Valve Prolapse Caused by TLL1 Gain-of-Function Mutation.

Journal: The Canadian journal of cardiology

Published: August 17, 2024

Showing 1-12 of 29

Last Updated: 09/26/2026